Literature DB >> 21690550

Ichthyosis prematurity syndrome caused by a novel fatty acid transport protein 4 gene mutation in a German infant.

Oliver Inhoff, Ingrid Hausser, Stefan W Schneider, Denis Khnykin, Frode L Jahnsen, Johann Sartoris, Sergij Goerdt, Wiebke K Peitsch.   

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Year:  2011        PMID: 21690550     DOI: 10.1001/archdermatol.2011.139

Source DB:  PubMed          Journal:  Arch Dermatol        ISSN: 0003-987X


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  5 in total

Review 1.  Inherited ichthyoses/generalized Mendelian disorders of cornification.

Authors:  Matthias Schmuth; Verena Martinz; Andreas R Janecke; Christine Fauth; Anna Schossig; Johannes Zschocke; Robert Gruber
Journal:  Eur J Hum Genet       Date:  2012-06-27       Impact factor: 4.246

Review 2.  Role of fatty acid transport protein 4 in metabolic tissues: insights into obesity and fatty liver disease.

Authors:  Huili Li; Thomas Herrmann; Jessica Seeßle; Gerhard Liebisch; Uta Merle; Wolfgang Stremmel; Walee Chamulitrat
Journal:  Biosci Rep       Date:  2022-06-30       Impact factor: 3.976

3.  Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome.

Authors:  Ikuya Tsuge; Masashi Morishita; Takema Kato; Makiko Tsutsumi; Hidehito Inagaki; Yuji Mori; Kazuo Yamawaki; Chisato Inuo; Kuniko Ieda; Tamae Ohye; Akinori Hayakawa; Hiroki Kurahashi
Journal:  Hum Genome Var       Date:  2015-02-12

4.  Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India.

Authors:  Renu George; Sridhar Santhanam; Rekha Samuel; Aaron Chapla; Hilde Tveitan Hilmarsen; Geir Julius Braathen; Finn P Reinholt; Frode Jahnsen; Denis Khnykin
Journal:  Clin Case Rep       Date:  2015-12-01

5.  A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis.

Authors:  Jianning Tao; Maranke I Koster; Wilbur Harrison; Jennifer L Moran; David R Beier; Dennis R Roop; Paul A Overbeek
Journal:  PLoS One       Date:  2012-11-30       Impact factor: 3.240

  5 in total

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